Results 101 to 110 of about 61,856,371 (158)

Enfermedad de Gaucher Tipo I y embarazo: diagnóstico molecular

, 2014
Presentamos paciente de 33 años, II gesta, I aborto, con enfermedad de Gaucher tipo I, diagnosticado hace 28 años. Recibió terapia de reemplazo enzimático. A las 38 semanas de gestación se realizó cesárea obteniendo recién nacido femenino. En el Instituto de Investigaciones Genéticas de la Facultad de Medicina de la Universidad del Zulia. Maracaibo. Se
Morales de Machín, Alisandra, Méndez, Karilé, Bracho, Ana, Chacín, José   +3 more
openaire   +1 more source

An integrated approach for rare disease detection and classification in Spanish pediatric medical reports. [PDF]

Sci Rep
Duque A, Araujo L, Martinez-Romo J, Esteban-Vasallo MD, Domínguez-Berjón MF, Malillos Perez D.   +5 more
europepmc   +1 more source

Mathematical reconstruction of the metabolic network in an in-vitro multiple myeloma model. [PDF]

PLoS Comput Biol, 2023
Vera-Siguenza E, Escribano-Gonzalez C, Serrano-Gonzalo I, Eskla KL, Spill F, Tennant D.   +5 more
europepmc   +1 more source

[Rare diseases in a medical genetics service of population with social security]. [PDF]

Rev Med Inst Mex Seguro Soc
Jiménez-Pérez B, Juárez-Melchor D, Guzmán-Santiago AA, Sánchez-Ortega A, Vera-Loaiza A, Flores-Martínez C, Aguilar-Cózatl I.   +6 more
europepmc   +1 more source

Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience. [PDF]

Front Pediatr
Goker-Alpan O, Ivanova MM, Pathak R, Wright E.   +3 more
europepmc   +1 more source

Manifestações oculares da doença de Gaucher: apresentação de um caso e revisão do assunto

, 2017
We report the case of a patient with Gaucher disease (GD) type 3b, with a homozygous GBA gene mutation (c.1448T > C p.L483P) (L444P). Ocular findings characteristic of this mutation are described, including vitreous condensation and macular edema.
Mejía-Turizo, Juan Carlos, Rojas-Múnera, Sebastián, Arango-Simoni, Kevin, Orrego-Betancur, Sebastián Reinaldo, Franco-Echeverri, Carlos Mario   +4 more
core  

Synergistic effects of vedolizumab and JAK 1,2,3 inhibitors in Crohn's disease: insights from a systems biology and artificial intelligence-based approach. [PDF]

Front Immunol
Marín-Jiménez I, Sierra-Ausín M, Letosa-Abián T, Aparicio J, Montoto-Otero C, Sánchez-Ramón S.   +5 more
europepmc   +1 more source